Variant report

Variant	rs747060
Chromosome Location	chr14:24759678-24759679
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:24679583..24682789-chr14:24759113..24762719,3	K562	blood:
2	chr14:24759089..24762221-chr14:24766736..24770177,4	MCF-7	breast:
3	chr14:24701726..24703938-chr14:24757883..24760008,2	K562	blood:
4	chr14:24663653..24665902-chr14:24759209..24762065,2	MCF-7	breast:
5	chr14:24759345..24761161-chr14:24766043..24768971,2	K562	blood:

Variant related genes	Relation type
ENSG00000254505	Chromatin interaction
ENSG00000100926	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000100938	Chromatin interaction
ENSG00000196943	Chromatin interaction
ENSG00000157379	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1046587	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.87[EUR][1000 genomes]
rs1051883	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12881984	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12884896	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12885593	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12887789	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12891757	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12892146	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12892419	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12892579	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12895335	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12895752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12896386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12896469	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2295306	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2295307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3825586	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4982889	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4982890	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4982891	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4982892	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4982894	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7146665	1.00[CEU][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7400863	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7401804	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8003991	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs941507	0.96[CEU][hapmap];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs747060	DHRS1	cis	Thyroid	GTEx
rs747060	DHRS1	cis	Frontal Cortex	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24741200-24768200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:24741600-24767800	Weak transcription	Fetal Brain Male	brain
3	chr14:24748000-24764800	Weak transcription	K562	blood
4	chr14:24748600-24768200	Weak transcription	Psoas Muscle	Psoas
5	chr14:24748800-24764800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr14:24749000-24768200	Weak transcription	Right Atrium	heart
7	chr14:24749400-24763800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr14:24750800-24765000	Weak transcription	NHDF-Ad	bronchial
9	chr14:24753200-24760400	Weak transcription	Hela-S3	cervix
10	chr14:24753600-24766000	Weak transcription	Fetal Heart	heart
11	chr14:24753600-24768200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:24754200-24761400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:24756200-24765800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr14:24756400-24760600	Strong transcription	HepG2	liver
15	chr14:24756400-24764400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr14:24756400-24765800	Strong transcription	Fetal Intestine Small	intestine
17	chr14:24757200-24764800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr14:24757400-24765000	Weak transcription	Fetal Kidney	kidney
19	chr14:24757600-24766000	Weak transcription	Stomach Mucosa	stomach
20	chr14:24757800-24766200	Strong transcription	Fetal Stomach	stomach
21	chr14:24758000-24762200	Strong transcription	NHEK	skin
22	chr14:24758000-24765400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr14:24758000-24766000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr14:24758400-24759800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr14:24758400-24759800	Genic enhancers	GM12878-XiMat	blood
26	chr14:24758400-24761200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr14:24758400-24762000	Strong transcription	Osteobl	bone
28	chr14:24758400-24762200	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr14:24758400-24762200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr14:24758400-24762400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:24758400-24762400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:24758400-24765200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:24758400-24766000	Strong transcription	Fetal Intestine Large	intestine
34	chr14:24758400-24766400	Strong transcription	Fetal Muscle Trunk	muscle
35	chr14:24758600-24759800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr14:24758600-24759800	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr14:24758600-24759800	Genic enhancers	Primary B cells from cord blood	blood
38	chr14:24758600-24759800	Genic enhancers	Primary T cells fromperipheralblood	blood
39	chr14:24758600-24759800	Strong transcription	Liver	Liver
40	chr14:24758600-24760200	Genic enhancers	Primary B cells from peripheral blood	blood
41	chr14:24758600-24760200	Strong transcription	NH-A	brain
42	chr14:24758600-24760400	Strong transcription	HSMM	muscle
43	chr14:24758600-24760600	Strong transcription	Spleen	Spleen
44	chr14:24758600-24762000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:24758600-24762000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr14:24758600-24762000	Strong transcription	Esophagus	oesophagus
47	chr14:24758600-24762000	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr14:24758600-24762200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr14:24758600-24762200	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr14:24758600-24762200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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